Activity
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4 actions
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| DDG2P v3.12 | PLPBP | Achchuthan Shanmugasundram reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27912044; Phenotypes: Vitamin-B6-Dependent Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PLPBP |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLPBP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PLPBP | Rebecca Foulger reviewed gene: PLPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PLPBP |
Rebecca Foulger gene: PLPBP was added gene: PLPBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLPBP were set to 27912044 Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy |
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